Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. 26034244

2015
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730

2015
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 24998021

2014
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 24621862

2014
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479

2013
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR Cerebral arteriopathy associated with Arg179His ACTA2 mutation. 24293535

2013
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 22946110

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 22831780

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		T 0.700 CausalMutation CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010